Ataxia Telangiectasia
Telsklgjsdkl.jpg|Telangiectasia ataiza.jpg|Telangiectaisa in Eyes ataxia.gif|Test for Ataxia ataxiatelangiectasia.jpg|Telangiectasia on Nose Ataxia-telangiectasia1.gif|Telangiectasia in Eye Ataxia Telangiectasia (A-T) is a rare neurological disorder that causes degeneration in the part of the brain that controls the motor movements and speech. A-T also causes the immune system to break down, making the body susceptible to diseases, exspecially respiratory infection. Symptoms Ataxia Ataxia is the lack of muscle controls, it is the part of the diease that causes movement problems. It starts off by attacking the cerebellum, which is the center for motor control. Ataxia begins to progressively destroy this part of the brain, leading to severe consquences. It leads to confining patients to a wheelchair and losing the abilitly to read and write. Patients' speech can even become slurred and slowed. Ataxia causes the body to lose control of its movements, and make even the slightest movements diffucult and almost impossible to complete. Telangiectasias After ataxia begins taking place, telangiectasias happens. It is dilated blood vessels, about one millimeter wide. They appear as tiny red spider veins that appear on the surface of the skin. Telangiectasia can appear anywhere on the body, but is most commonly found on the ears, cheeks, and eyes. It seems to be not dangerous, but because of the appearance, it led to the diease being called Ataxia Telangiectasia. In A-T patients, telangiectasia usually begins in the teenage years, around ten years old. Sometimes, they seldom appear, but that is rare. Telangiectasias is used as a trademark for A-T. Other Symptoms Ataxia Telangiectasia also has a lot of other symptoms, such as: *Mild Diabetes Mellitus, a disease when the body does not control the amount of sugar in the blood and the kidneys make a large amount of urine. *A physical symptom of A-T is premature graying of the hair. *A-T causes difficulty swallowing, which can lead to choking or drooling. *Slowed Growth is common In A-T patients. * Weight problems: Many A-T patients are very thin, and have delayed puberty. *Fidgeting is a common symptom for A-T. Patients usually have uncontrollable jerks of hands and feet, twisting movements of the body, and shaking(tremors). *A-T patients have an increased sensitivity to ionizing radiation, found in X-rays. Rerpercussions There are many repercussions of having A-T. A-T increases the risk of devoloping other dieases, such as cancer, and immune problems. Cancer Patients with A-T have a higher chance of devoloping and dying from cancer. Overall, patients have a 37% higher chance of devoloping cancer. It is proven that mothers that have A-T have a 32% chance of devoloping breast cancer. Immune Problems Many A-T patients also have a higher risk of devolping immune system problems. Seventy percent of patients devolop immune system problems, such as respiratoy infections. This is because the infection fighting parts of the body are not functional. Because of this, patients devolop many lung infections that cant be treated with antibotics. These infections occur over and over, and lead to death of patients. Diagnosis Prognosis A-T is a very fatal genetic disorder. It is uncurable, and nonstopping. The effects only get worse. Throughtout a patient's lifetime, they are wheelchair bound, and they usually devolop cancer, such as lymphoma and leukemia. Because A-T patients are sensitive to radiation, they can not recieve cancer treatment. Most people with A-T are only expected to live into their teen or early 20s, though, in rare cases, may live into their 40s. People with A-T usually die of respiratory failure or cancer brought on the diease. Frequency Ataxia Telangiectasia occurs in 1 out of 40,000 in the United States and 1 out of 100,000 people worldwide. But it is believed that many children with A-T are never properly diagnosed, so A-T may be more common. Ataxia Telangiectasia can occur in all regions, it has no geographic preference. Method of Inheritance The gene responsible for causing A-T is known as ATM (ataxia-telangiectasia mutated). It was discovered in 1995 by NINDS-supported researchers. The gene responsible is autosomal recessive. Therefore both parents must be a carrier of the gene. The recessive gene can lie dormant for a few generations, untl both parents are carriers of the mutated gene. Every time two carriers have a baby together, there is a 25% risk of producing a baby with A-T. What does it mean to be a Carrier? A carrier is a person that has one copy of the recessive mutated gene, ATM, and one copy of the dominant normal gene. Carrier often don't know they are carriers because they have little to no symptoms. In order for the child to get the disease, he/she would have to recieve two mutated genes, one from each parent. How many A-T carriers are there in the United States? There is an estimated 2.5 million carriers in the United States. This is one percent of the US population. Treatment Unfortunately, there is no cure for A-T. There is also no way to even slow down the progresing disease. There is currently no treatment for Ataxia Telangiectasia, but there are a few things that can be done to help improve the condition of the diease. Therapy Therapy is one of the ways some of the effects of the symptoms lessen. Physical therapy is used to maintain flexibility of the limbs. Occupational therapy is also used to promote general health of patients. Speech therapy can also be used to help patients better devolop their words, and increase their speaking ability. *Some types of therapy is adding weight to untensils while eating and bracing elbows to table while trying to complete another task. Gamma- Globulin Injections Some patients inject gamma-globulin to help boost their immune system. These injections are used to boost the immune system, helping produce antibodies needed to fight off infections. This practice isn't that common anymore. High Dose Vitamins These can be taken to help the body become healthier, but the have moderate results. Interesting Facts *A-T patients usually have normal or above normal intelligence. But, as the diease progresses, patients can become mentally retarted. *Both male and females are equally affected. *A-T can affect any person, regardless of their race or geographic location. No specific race is prone to devolop A-T more frequently than another. *Very little government money is giving to researching A-T. *It is known as an orphan diease because of the little pharmaceutical reasearch data. * Syllaba and Henner first published descriptions of patients with ataxia-telangiectasia in 1926 * Telangiectasia doesn't burn the face and isn't itchy! * Patients usually have to adapt to new types of equipment, such as larger keyboards. * One way to test for ataxia is to tip your head back, stretch out your arms, and touch your nose with one hand and then the other. Ataxia Telangiectasia patients can't complete this task. Ways to Help The best way to help Ataxia Telangiectasia patients is to donate money. Very little money is given to find cures for this diease, so any donation can help. You can also participate in a Walk-A-Thon and run in races supporting A-T. Even if you can't participate, you can always donate money or support other runners. There are also many organizations , such as the A-T Children's Project, where you can donate money. A-T Children's Project also sponsors events, such as golf tournaments, where you can go and donate money. A-T Children's Project A-T Children's Project is an organaztion founded in 1993, by a family who had two sons with A-T. The non-profit foundation raises money through events, and contributions. The main goal of the organaztion is raise money for research to find a cure for A-T. A-T Children's Foundation says their mission is to: *To encourage and support excellent laboratory research which will accelerate the discovery of a cure or possible therapies for ataxia-telangiectasia * To improve the accurate and timely diagnosis of A-T patients by increasing public awareness and by educating physicians *To support and oversee a clinical center and information clearinghouse at a top-rated, world-class medical center for the evaluation of A-T patients *To develop quantitative endpoints for objectively measuring the progression rate and severity of the symptoms of A-T *To maintain and enlarge a tissue/cell bank with objective, neutral oversight and control in order to ensure free access of existing and new researchers to A-T patient specimens Websites http://www.cancer.gov/cancertopics/factsheet/risk/ataxia http://www.ninds.nih.gov/disorders/a_t/a-t.htm http://www.communityatcp.org/Page.aspx?pid=588